Segmental Duplications as a Complement Strategy to Short Tandem Repeats in the Prenatal Diagnosis of Down Syndrome

Prenatal Diagnosis of Down Syndrome

Chromosomal aberration is a phenomenon occurring relatively commonly in the development process. Chromosomal aberration is known to have various causes, and its frequency has been reported to vary particularly according to maternal age. Though different among reports, the frequency was around 0.6-0.8% in analysis with all childbirths1 and around 2-3% in case childbirths were reclassified based ...

the effectiveness of strategy-based instruction in teaching english as a second or foreign language: a meta-analysis of experimental studies

a large number of single research studies on the effects of strategy-based instruction (sbi) in teaching english as a foreign or second language has been conducted so far. however, the lack of a comprehensive meta-analysis targeting the effectiveness of english language sbi is observed. moreover, the findings of experimental studies regarding the context of the english language, proficiency lev...

from linguistics to literature: a linguistic approach to the study of linguistic deviations in the turkish divan of shahriar

chapter i provides an overview of structural linguistics and touches upon the saussurean dichotomies with the final goal of exploring their relevance to the stylistic studies of literature. to provide evidence for the singificance of the study, chapter ii deals with the controversial issue of linguistics and literature, and presents opposing views which, at the same time, have been central to t...

Non Invasive Prenatal Diagnosis of Down Syndrome

Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus.

We report the prenatal sonographic diagnosis of hydrometrocolpos caused by an imperforate hymen in a Down syndrome fetus, with spontaneous evacuation on the third day of life. In this case, sonographic evaluation in the 37th week revealed a large retrovesical, sharply marginated, heterogeneous, unilocular cystic structure within the fetal abdomen extending to the left side of the umbilicus.

Child abuse in medical setting presenting as gross hematuria: diagnosis by DNA short tandem repeats.

Two sisters, aged 15 and 13 years, had previous epithelioid angiomyolipoma of the kidney and suspected thin basement membrane disease, respectively. They presented with 2 years of gross hematuria and new-onset heavy proteinuria. Extensive investigations failed to find an overt cause of their urinary manifestations. The diagnosis of child abuse in a medical setting was confirmed by DNA short tan...